人类唇腭裂中的母体效应。
Maternal effects in human cleft lip and palate.
作者信息
Bingle G J, Niswander J D
出版信息
Am J Hum Genet. 1977 Nov;29(6):605-9.
To look for a persistent maternal effect of CL(P) and CP, 8,000 pedigrees were screened for half sibships, and data were pooled from 16 investigators. After excluding known genetic or cytogenetic diagnoses from the probands with facial clefts, a recurrence risk of .011 was obtained for CL(P) based upon 342 maternal half sibs. This was nearly identical to the risk of .014 based upon 210 paternal half sibs. CP proband frequencies of .004 for maternal half sibs and .009 for the paternal counterparts were also found. The lack of significant maternal effects in this data supports previously reported data from twin studies and from interracial crosses from Hawaii. The lack of maternal effect in human CL(P) and CP is in contrast to genetic data on clefting in mice.
为了寻找唇（腭裂）（CL(P)）和腭裂（CP）的持续母体效应，对8000个家系进行了半同胞关系筛查，并汇总了16位研究者的数据。在排除面部裂隙先证者已知的遗传或细胞遗传学诊断后，基于342名母系半同胞，CL(P)的复发风险为0.011。这与基于210名父系半同胞的0.014风险几乎相同。还发现母系半同胞的CP先证者频率为0.004，父系半同胞为0.009。该数据中缺乏显著的母体效应，这与之前双胞胎研究以及夏威夷种族间杂交的报告数据一致。人类CL(P)和CP中缺乏母体效应，这与小鼠腭裂的遗传数据形成对比。
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